MARFAN Syndrome Type 1

TEST CODE MG01790
TEST NAME MARFAN Syndrome Type 1
RELATED GENE FBN1
SYNONYMOUS FBN1
OMIM 154700
HEREDITY Autosomal Dominant
CLINICAL AREA MARFAN Syndrome Type 1 is an Autosomal Dominant inherited disease. Mutations in the FBN1 gene have been associated with the disease.
METHOD Next Generation Sequencing
SAMPLE TYPE Blood with EDTA
QUANTITY 3 mL
TAT 40 DAYS

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